4-99884076-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_021970.4(LAMTOR3):c.287G>A(p.Ser96Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000236 in 1,610,672 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021970.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LAMTOR3 | NM_021970.4 | c.287G>A | p.Ser96Asn | missense_variant | Exon 6 of 7 | ENST00000499666.7 | NP_068805.1 | |
LAMTOR3 | NM_001243736.1 | c.266G>A | p.Ser89Asn | missense_variant | Exon 6 of 7 | NP_001230665.1 | ||
LAMTOR3 | NR_024170.1 | n.490G>A | non_coding_transcript_exon_variant | Exon 5 of 6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LAMTOR3 | ENST00000499666.7 | c.287G>A | p.Ser96Asn | missense_variant | Exon 6 of 7 | 1 | NM_021970.4 | ENSP00000424183.1 | ||
LAMTOR3 | ENST00000515100.1 | n.372G>A | non_coding_transcript_exon_variant | Exon 5 of 6 | 1 | |||||
LAMTOR3 | ENST00000226522.8 | c.266G>A | p.Ser89Asn | missense_variant | Exon 6 of 7 | 3 | ENSP00000226522.8 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251248Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135820
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1458580Hom.: 0 Cov.: 29 AF XY: 0.0000234 AC XY: 17AN XY: 725814
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152092Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74268
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.287G>A (p.S96N) alteration is located in exon 6 (coding exon 5) of the LAMTOR3 gene. This alteration results from a G to A substitution at nucleotide position 287, causing the serine (S) at amino acid position 96 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at